International Journal of Health Sciences and Research

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Case Report

Year: 2018 | Month: December | Volume: 8 | Issue: 12 | Pages: 178-183

Lethal Neonatal Rhizomelic Dwarfism: A Report of Two Cases

Victor Joel-Medewase1, Olufemi Aworinde2, Ayobami Alabi1, Opeyemi Akinremi3, Oluwaseun Lekan-Kehinde4

1Consultant Paediatrician, Dept. of Paediatrics & Child Health, Ladoke Akintola, University of Technology Teaching Hospitals, Ogbomoso, Oyo State, Nigeria.
2Consultant Obstetrician and Gyneacologist, Dept. of Obstetrics and Gyneacology, Bowen Teaching Hospital, Ogbomoso, Oyo State, Nigeria.
3Senior Registrar, Dept of Radiology, University College Hospital, Ibadan, Oyo State, Nigeria.
4Medical Officer, Our Lady of Apostle Catholic Hospital, Oluyoro, Oyo state, Nigeria.

Corresponding Author: Victor Joel-Medewase


Rhizomelia is a condition in which there is a shortness of proximal limbs, while dwarfism connotes a short stature. Both rhizomelia and dwarfism are uncommon diseases of the newborn, while concurrence of both diseases in the newborn is rarer. We report two cases in which both diseases occurred concurrently and both had a lethal outcome. The first case had the characteristic phenotypic features of thanatophoric dysplasia type I, while the second case had characteristic physical and radiological features of Osteogenesis imperfecta type II. The challenges of diagnosis and treatment are highlighted with a view to proffering solutions that may positively influence management of children with similar clinical features in future.

Key words: Rhizomelia, Lethal neonatal rhizomelic dwarfism, skeletal dysplasia.

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